Variant report

Variant	nsv1016827
Chromosome Location	chr7:110301346-110346970
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:110313511..110317347-chr7:110318339..110321153,3	K562	blood:
2	chr7:110302721..110305651-chr7:110305918..110308870,2	K562	blood:
3	chr7:110336994..110339612-chr7:110342328..110344692,2	MCF-7	breast:
4	chr7:110336994..110339612-chr7:110342328..110344692,2	MCF-7	breast:
5	chr7:110302721..110305651-chr7:110305918..110310342,3	K562	blood:
6	chr7:110317481..110318045-chr7:110398859..110399665,2	MCF-7	breast:
7	chr7:110302721..110305651-chr7:110305918..110308870,2	K562	blood:
8	chr7:110289764..110291732-chr7:110329023..110331398,2	K562	blood:
9	chr7:110316775..110319501-chr7:110319800..110322474,2	MCF-7	breast:
10	chr7:110313511..110317347-chr7:110318339..110321153,3	K562	blood:
11	chr7:110316775..110319501-chr7:110319800..110322474,2	MCF-7	breast:
12	chr7:110302721..110305651-chr7:110305918..110310342,3	K562	blood:
13	chr7:110317303..110318127-chr7:110400606..110401594,2	MCF-7	breast:

No data

Extended variants
information (count: 1437 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1437 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs869100	chr7:110301346-110301347	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571358516	chr7:110301365-110301366	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs533924312	chr7:110301451-110301452	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs58124123	chr7:110301466-110301467	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs75908836	chr7:110301510-110301511	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs567286644	chr7:110301522-110301523	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs553915666	chr7:110301528-110301529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs535881714	chr7:110301570-110301571	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs872492	chr7:110301592-110301593	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs562178093	chr7:110301636-110301637	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs575535656	chr7:110301649-110301650	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs117015666	chr7:110301683-110301684	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs147874792	chr7:110301684-110301685	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs872491	chr7:110301730-110301731	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs145454197	chr7:110301761-110301762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs185677874	chr7:110301844-110301845	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs542661056	chr7:110301845-110301846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs376429004	chr7:110301902-110301903	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs562732813	chr7:110301927-110301928	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs531681951	chr7:110301938-110301939	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs147683000	chr7:110301990-110301991	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs376680781	chr7:110302036-110302037	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs565101736	chr7:110302041-110302042	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs76047950	chr7:110302061-110302062	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs547432910	chr7:110302071-110302072	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs188920436	chr7:110302087-110302088	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs55752017	chr7:110302111-110302112	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs75026742	chr7:110302153-110302154	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs373254117	chr7:110302168-110302169	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs533089684	chr7:110302214-110302215	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs182009462	chr7:110302242-110302243	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs569198319	chr7:110302257-110302258	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs538193774	chr7:110302259-110302260	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs142584914	chr7:110302272-110302273	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs372317290	chr7:110302273-110302274	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs565820092	chr7:110302359-110302360	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs7781941	chr7:110302374-110302375	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs148881086	chr7:110302378-110302379	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs534152805	chr7:110302386-110302387	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs554192757	chr7:110302406-110302407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148069431	chr7:110302414-110302415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186194759	chr7:110302428-110302429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556644505	chr7:110302513-110302514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576385517	chr7:110302680-110302681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111557696	chr7:110302681-110302682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11355369	chr7:110302684-110302685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1525677	chr7:110302695-110302696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs534843638	chr7:110302696-110302697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527451999	chr7:110302724-110302725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370461474	chr7:110302739-110302740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110300600-110302200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:110300800-110302400	ZNF genes & repeats	Ovary	ovary
3	chr7:110301200-110303200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:110301200-110311600	Weak transcription	Pancreas	Pancrea
5	chr7:110301400-110302400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr7:110302400-110303200	Weak transcription	Ovary	ovary
7	chr7:110302400-110303600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:110303600-110303800	ZNF genes & repeats	Aorta	Aorta
9	chr7:110303600-110304600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr7:110304000-110304200	Weak transcription	Ovary	ovary
11	chr7:110304400-110304600	ZNF genes & repeats	Aorta	Aorta
12	chr7:110304600-110312800	Weak transcription	Aorta	Aorta
13	chr7:110308200-110312000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:110309200-110309400	Enhancers	Gastric	stomach
15	chr7:110309400-110309800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:110309400-110309800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
17	chr7:110309400-110322200	Weak transcription	Gastric	stomach
18	chr7:110311400-110313200	Weak transcription	Right Ventricle	heart
19	chr7:110311600-110311800	ZNF genes & repeats	Pancreas	Pancrea
20	chr7:110312800-110313400	ZNF genes & repeats	Aorta	Aorta
21	chr7:110313200-110313400	ZNF genes & repeats	Right Ventricle	heart
22	chr7:110313400-110327000	Weak transcription	Aorta	Aorta
23	chr7:110316400-110318400	Enhancers	HepG2	liver
24	chr7:110316600-110318000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:110317600-110318200	Enhancers	Fetal Heart	heart
26	chr7:110318000-110318400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:110318200-110320800	Weak transcription	Fetal Heart	heart
28	chr7:110318400-110318800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:110320800-110322800	Enhancers	Fetal Heart	heart
30	chr7:110322200-110322400	Enhancers	Gastric	stomach
31	chr7:110322200-110322600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:110322800-110325400	Weak transcription	Fetal Heart	heart
33	chr7:110325400-110325600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr7:110325400-110326400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:110325400-110326600	Enhancers	Fetal Heart	heart
36	chr7:110325600-110332800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:110327400-110329800	Weak transcription	Pancreas	Pancrea
38	chr7:110332600-110333600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr7:110332800-110333200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr7:110332800-110333600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:110332800-110333800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:110332800-110333800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:110332800-110333800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr7:110332800-110333800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr7:110332800-110334000	Enhancers	Fetal Intestine Small	intestine
46	chr7:110332800-110334800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr7:110333000-110333400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:110333000-110333400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:110333000-110334200	Enhancers	Fetal Intestine Large	intestine
50	chr7:110333000-110334200	Enhancers	Rectal Mucosa Donor 29	rectum

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